KEGG   DISEASE: Cockayne syndrome
H00076                      Disease                                
Cockayne syndrome
Disorders of nucleotide excision repair [DS:H00403]
Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries and neurological degeneration. CS has thus been classified as a segmental premature-aging syndrome. Two complementation groups (CSA and CSB) have been identified so far in CS cases. CSA caused by mutation in the gene encoding the group 8 excision-repair cross-complementing protein (ERCC8) is early childhood onset in the second year of life. CSB caused by mutation in the ERCC6 gene is late childhood onset with mild symptoms. ERCC8 encodes a Walker domain (WD)-repeat protein involved in the transcription-coupled repair system of the actively transcribed DNA. ERCC6 protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome-DNA repair, as well as in general transcription.
Neurodegenerative disease
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00076  Cockayne syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H00076  Cockayne syndrome
hsa03420  Nucleotide excision repair
nt06502 Nucleotide excision repair
(CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB) ERCC6 [HSA:2074] [KO:K10841]
(XPB/CS) ERCC3 [HSA:2071] [KO:K10843]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS) ERCC5 [HSA:2073] [KO:K10846]
Affected region: cerebral cortex, cerebellum, basal ganglia
Microscopic lesion: accumulate of DNA lesions, tigroid-type demyelination, multifocal calcium deposition
Other DBs
ICD-11: LD2B
ICD-10: Q87.1
MeSH: D003057
OMIM: 216400 133540 610651 278780
Frosina G.
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome.
Free Radic Biol Med 43:165-77 (2007)
PMID:17084038 (ERCC8)
Kleppa L, Kanavin OJ, Klungland A, Stromme P
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.
Neuroscience 145:1397-406 (2007)
PMID:14639525 (ERCC6)
Licht CL, Stevnsner T, Bohr VA
Cockayne syndrome group B cellular and biochemical functions.
Am J Hum Genet 73:1217-39 (2003)
PMID:16947863 (ERCC3)
Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Hum Mutat 27:1092-103 (2006)
PMID:23623389 (ERCC4)
Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Am J Hum Genet 92:807-19 (2013)
PMID:8317483 (ERCC5)
Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
Am J Hum Genet 53:185-92 (1993)

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